Found: 5
Select item for more details and to access through your institution.
A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease).
- Published in:
- BMC Veterinary Research, 2018, v. 14, n. 1, p. N.PAG, doi. 10.1186/s12917-018-1728-1
- By:
- Publication type:
- Article
Reduction in Golgi apparatus dimension in the absence of a residential protein, N-acetylglucosaminyltransferase V.
- Published in:
- Histochemistry & Cell Biology, 2014, v. 141, n. 2, p. 153, doi. 10.1007/s00418-013-1146-1
- By:
- Publication type:
- Article
Structural snapshots of the reaction coordinate for O-GlcNAc transferase.
- Published in:
- Nature Chemical Biology, 2012, v. 8, n. 12, p. 966, doi. 10.1038/nchembio.1109
- By:
- Publication type:
- Article
Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene ( GNPTAB) in a French Canadian founder population.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 3, p. 236, doi. 10.1111/j.1399-0004.2007.00954.x
- By:
- Publication type:
- Article
Abnormal expressions of the subunits of the UDP- N-acetylglucosamine: lysosomal enzyme, N-acetylglucosamine-1-phosphotransferase, result in the formation of cytoplasmic vacuoles resembling those of the I-cells.
- Published in:
- Journal of Molecular Medicine, 2007, v. 85, n. 4, p. 351, doi. 10.1007/s00109-006-0128-3
- By:
- Publication type:
- Article